title: Mutation in the 5' noncoding region of the SRY gene in an XY sex-reversed patient.
authors.affiliation: Centre de recherche de biochimie macromoléculaire, CNRS ERS155, INSERM U249, Montpellier, France.
authors.forename: F
authors.initials: F
authors.lastname: Poulat
authors.forename: M
authors.initials: M
authors.lastname: Desclozeaux
authors.forename: S
authors.initials: S
authors.lastname: Tuffery
authors.forename: P
authors.initials: P
authors.lastname: Jay
authors.forename: B
authors.initials: B
authors.lastname: Boizet
authors.forename: P
authors.initials: P
authors.lastname: Berta
mesh_terms: D000328:Adult; D000595:Amino Acid Sequence; D001483:Base Sequence; D004247:DNA / Q000737:chemistry / Q000235:genetics; D004252:DNA Mutational Analysis; D004268:DNA-Binding Proteins / Q000235:genetics*; D006061:Gonadal Dysgenesis, 46,XY / Q000235:genetics*; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D009154:Mutation; D009687:Nuclear Proteins; D017354:Point Mutation; D018807:Polymorphism, Single-Stranded Conformational; D011401:Promoter Regions, Genetic; D019849:Sex Determination Processes; D051876:Sex-Determining Region Y Protein; D014157:Transcription Factors
chemical_list: D004268:DNA-Binding Proteins; D009687:Nuclear Proteins; C497745:SRY protein, human; D051876:Sex-Determining Region Y Protein; D014157:Transcription Factors; D004247:DNA